RGD:38462941 Rat Genome Database

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Variant: RGD:38462941 -  Homo sapiens

RGD ID: 38462941
RS ID: rs5295
ClinVar ID: CV920251
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP11B1  LOC106799833  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 143,955,916
GRCh38 8 142,874,500
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000497.4:c.1399-14G>A
NM_001026213.1:c.1201-14G>A
NG_046132.1:g.367C>T
NG_007954.1:g.10321G>A
More... 		01/29/2019 intron variant uncertain significance ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME; ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE; FH I; GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM; Hyperaldosteronism, familial, type I
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYP11B1
Accession:NM_000497
Location:INTRON

Gene Symbol:CYP11B1
Accession:NM_001026213
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001197785 CLINVAR
dbSNP (RS) rs5295 CLINVAR
MedGen C3838731 CLINVAR
NCBI Gene 106799833 CLINVAR
  CYP11B1 CLINVAR
OMIM 103900 CLINVAR
  610613 CLINVAR